-
1
-
-
28844468449
-
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin
-
Trefz F.K., Scheible D., Frauendienst-Egger G., Korall H., Blau N. Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Mol Genet Metab 2005, 86(Suppl. 1):S75-S80.
-
(2005)
Mol Genet Metab
, vol.86
, Issue.SUPPL. 1
-
-
Trefz, F.K.1
Scheible, D.2
Frauendienst-Egger, G.3
Korall, H.4
Blau, N.5
-
2
-
-
0033504353
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Kure S., Hou D.C., Ohura T., et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 1999, 135:375-378.
-
(1999)
J Pediatr
, vol.135
, pp. 375-378
-
-
Kure, S.1
Hou, D.C.2
Ohura, T.3
-
3
-
-
2542429299
-
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Blau N., Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 2004, 82:101-111.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 101-111
-
-
Blau, N.1
Erlandsen, H.2
-
4
-
-
34547697475
-
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
-
Levy H.L., Milanowski A., Chakrapani A., et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 2007, 370:504-510.
-
(2007)
Lancet
, vol.370
, pp. 504-510
-
-
Levy, H.L.1
Milanowski, A.2
Chakrapani, A.3
-
5
-
-
0037180758
-
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
-
Muntau A.C., Roschinger W., Habich M., et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 2002, 347:2122-2132.
-
(2002)
N Engl J Med
, vol.347
, pp. 2122-2132
-
-
Muntau, A.C.1
Roschinger, W.2
Habich, M.3
-
6
-
-
0036928279
-
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002
-
Bernegger C., Blau N. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol Genet Metab 2002, 77:304-313.
-
(2002)
Mol Genet Metab
, vol.77
, pp. 304-313
-
-
Bernegger, C.1
Blau, N.2
-
7
-
-
34248583457
-
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria
-
Fiege B., Blau N. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J Pediatr 2007, 150:627-630.
-
(2007)
J Pediatr
, vol.150
, pp. 627-630
-
-
Fiege, B.1
Blau, N.2
-
8
-
-
35248882919
-
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
-
Burton B.K., Grange D.K., Milanowski A., et al. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis 2007, 30:700-707.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 700-707
-
-
Burton, B.K.1
Grange, D.K.2
Milanowski, A.3
-
9
-
-
28844451504
-
The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study
-
Pey A.L., Martinez A. The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study. Mol Genet Metab 2005, 86(Suppl. 1):S43-S53.
-
(2005)
Mol Genet Metab
, vol.86
, Issue.SUPPL. 1
-
-
Pey, A.L.1
Martinez, A.2
-
10
-
-
46149093432
-
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability
-
Gersting S.W., Kemter K.F., Staudigl M., et al. Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. Am J Hum Genet 2008, 83:5-17.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 5-17
-
-
Gersting, S.W.1
Kemter, K.F.2
Staudigl, M.3
-
11
-
-
79952548103
-
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
-
Muntau A.C., Gersting S.W. Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism. J Inherit Metab Dis 2010, 33:649-658.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 649-658
-
-
Muntau, A.C.1
Gersting, S.W.2
-
12
-
-
33644925833
-
Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells
-
Aguado C., Perez B., Ugarte M., Desviat L.R. Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells. FEBS Lett 2006, 580:1697-1701.
-
(2006)
FEBS Lett
, vol.580
, pp. 1697-1701
-
-
Aguado, C.1
Perez, B.2
Ugarte, M.3
Desviat, L.R.4
-
13
-
-
79958701858
-
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
-
Staudigl M., Gersting S.W., Danecka M.K., et al. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum Mol Genet 2011, 20:2628-2641.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2628-2641
-
-
Staudigl, M.1
Gersting, S.W.2
Danecka, M.K.3
-
14
-
-
10044279157
-
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
-
Erlandsen H., Pey A.L., Gamez A., et al. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci USA 2004, 101:16903-16908.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 16903-16908
-
-
Erlandsen, H.1
Pey, A.L.2
Gamez, A.3
-
15
-
-
33947709950
-
Phenylketonuria: dietary and therapeutic challenges
-
Giovannini M., Verduci E., Salvatici E., Fiori L., Riva E. Phenylketonuria: dietary and therapeutic challenges. J Inherit Metab Dis 2007, 30:145-152.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 145-152
-
-
Giovannini, M.1
Verduci, E.2
Salvatici, E.3
Fiori, L.4
Riva, E.5
-
16
-
-
59749092734
-
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria
-
Trefz F.K., Scheible D., Gotz H., Frauendienst-Egger G. Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria. J Inherit Metab Dis 2009, 32:22-26.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 22-26
-
-
Trefz, F.K.1
Scheible, D.2
Gotz, H.3
Frauendienst-Egger, G.4
-
17
-
-
38149014672
-
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Zurfluh M.R., Zschocke J., Lindner M., et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat 2008, 29:167-175.
-
(2008)
Hum Mutat
, vol.29
, pp. 167-175
-
-
Zurfluh, M.R.1
Zschocke, J.2
Lindner, M.3
-
18
-
-
0032479302
-
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria
-
Fusetti F., Erlandsen H., Flatmark T., Stevens R.C. Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. J Biol Chem 1998, 273:16962-16967.
-
(1998)
J Biol Chem
, vol.273
, pp. 16962-16967
-
-
Fusetti, F.1
Erlandsen, H.2
Flatmark, T.3
Stevens, R.C.4
-
19
-
-
0030437749
-
Structure/function relationships in human phenylalanine hydroxylase. Effect of terminal deletions on the oligomerization, activation and cooperativity of substrate binding to the enzyme
-
Knappskog P.M., Flatmark T., Aarden J.M., Haavik J., Martinez A. Structure/function relationships in human phenylalanine hydroxylase. Effect of terminal deletions on the oligomerization, activation and cooperativity of substrate binding to the enzyme. Eur J Biochem 1996, 242:813-821.
-
(1996)
Eur J Biochem
, vol.242
, pp. 813-821
-
-
Knappskog, P.M.1
Flatmark, T.2
Aarden, J.M.3
Haavik, J.4
Martinez, A.5
-
20
-
-
0034110962
-
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype
-
Waters P.J., Parniak M.A., Akerman B.R., Scriver C.R. Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype. Mol Genet Metab 2000, 69:101-110.
-
(2000)
Mol Genet Metab
, vol.69
, pp. 101-110
-
-
Waters, P.J.1
Parniak, M.A.2
Akerman, B.R.3
Scriver, C.R.4
-
21
-
-
35348876038
-
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases
-
Pey A.L., Stricher F., Serrano L., Martinez A. Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. Am J Hum Genet 2007, 81:1006-1024.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1006-1024
-
-
Pey, A.L.1
Stricher, F.2
Serrano, L.3
Martinez, A.4
-
22
-
-
0035718361
-
In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation
-
Gjetting T., Petersen M., Guldberg P., Guttler F. In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation. Mol Genet Metab 2001, 72:132-143.
-
(2001)
Mol Genet Metab
, vol.72
, pp. 132-143
-
-
Gjetting, T.1
Petersen, M.2
Guldberg, P.3
Guttler, F.4
-
23
-
-
0032941139
-
Structural basis of autoregulation of phenylalanine hydroxylase
-
Kobe B., Jennings I.G., House C.M., et al. Structural basis of autoregulation of phenylalanine hydroxylase. Nat Struct Biol 1999, 6:442-448.
-
(1999)
Nat Struct Biol
, vol.6
, pp. 442-448
-
-
Kobe, B.1
Jennings, I.G.2
House, C.M.3
-
24
-
-
0032711431
-
The structural basis of phenylketonuria
-
Erlandsen H., Stevens R.C. The structural basis of phenylketonuria. Mol Genet Metab 1999, 68:103-125.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 103-125
-
-
Erlandsen, H.1
Stevens, R.C.2
-
25
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei I.A., Schmidt S., Peshkin L., et al. A method and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
26
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng P.C., Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001, 11:863-874.
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
27
-
-
33645764714
-
SNPs3D: candidate gene and SNP selection for association studies
-
Yue P., Melamud E., Moult J. SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 2006, 7:166.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 166
-
-
Yue, P.1
Melamud, E.2
Moult, J.3
-
28
-
-
0036291145
-
Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations
-
Guerois R., Nielsen J.E., Serrano L. Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. J Mol Biol 2002, 320:369-387.
-
(2002)
J Mol Biol
, vol.320
, pp. 369-387
-
-
Guerois, R.1
Nielsen, J.E.2
Serrano, L.3
-
29
-
-
33750612565
-
Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement
-
Kozak L., Hrabincova E., Kintr J., et al. Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement. Mol Genet Metab 2006, 89:300-309.
-
(2006)
Mol Genet Metab
, vol.89
, pp. 300-309
-
-
Kozak, L.1
Hrabincova, E.2
Kintr, J.3
-
30
-
-
0034744074
-
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
-
Erlandsen H., Stevens R.C. A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. J Inherit Metab Dis 2001, 24:213-230.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 213-230
-
-
Erlandsen, H.1
Stevens, R.C.2
-
32
-
-
0027136282
-
Comparative protein modelling by satisfaction of spatial restraints
-
Sali A., Blundell T.L. Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993, 234:779-815.
-
(1993)
J Mol Biol
, vol.234
, pp. 779-815
-
-
Sali, A.1
Blundell, T.L.2
-
33
-
-
0043289936
-
Theoretical study of binding of hydrated Zn(II) and Mg(II) cations to 5D́-guanosine monophosphate. Toward polarizable molecular mechanics for DNA and RNA
-
Gresh N., Sponer J.E., Spackova N., Leszczynski J., Sponer J. Theoretical study of binding of hydrated Zn(II) and Mg(II) cations to 5D́-guanosine monophosphate. Toward polarizable molecular mechanics for DNA and RNA. J Phys Chem B 2003, 107:8669-8681.
-
(2003)
J Phys Chem B
, vol.107
, pp. 8669-8681
-
-
Gresh, N.1
Sponer, J.E.2
Spackova, N.3
Leszczynski, J.4
Sponer, J.5
-
34
-
-
58049201323
-
-
University of California, San Francisco
-
Case D.A. AMBER 10 2008, University of California, San Francisco.
-
(2008)
AMBER 10
-
-
Case, D.A.1
-
35
-
-
2542543477
-
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition
-
Mirkovic N., Marti-Renom M.A., Weber B.L., Sali A., Monteiro A.N. Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res 2004, 64:3790-3797.
-
(2004)
Cancer Res
, vol.64
, pp. 3790-3797
-
-
Mirkovic, N.1
Marti-Renom, M.A.2
Weber, B.L.3
Sali, A.4
Monteiro, A.N.5
-
36
-
-
0035065485
-
SNPs, protein structure, and disease
-
Wang Z., Moult J. SNPs, protein structure, and disease. Hum Mutat 2001, 17:263-270.
-
(2001)
Hum Mutat
, vol.17
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
37
-
-
0017187836
-
The nature of the accessible and buried surfaces in proteins
-
Chothia C. The nature of the accessible and buried surfaces in proteins. J Mol Biol 1976, 105:1-12.
-
(1976)
J Mol Biol
, vol.105
, pp. 1-12
-
-
Chothia, C.1
-
38
-
-
0015441111
-
Protein volume in solution
-
Zamyatin A.A. Protein volume in solution. Prog Biophys Mol Biol 1972, 24:107-123.
-
(1972)
Prog Biophys Mol Biol
, vol.24
, pp. 107-123
-
-
Zamyatin, A.A.1
-
39
-
-
0025969881
-
Suggestions for "safe" residue substitutions in site-directed mutagenesis
-
Bordo D., Argos P. Suggestions for "safe" residue substitutions in site-directed mutagenesis. J Mol Biol 1991, 217:721-729.
-
(1991)
J Mol Biol
, vol.217
, pp. 721-729
-
-
Bordo, D.1
Argos, P.2
-
40
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974, 185:862-864.
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
41
-
-
84862269439
-
MSV3d: database of human MisSense variants mapped to 3D protein structure
-
Luu T.D., Rusu A.M., Walter V., et al. MSV3d: database of human MisSense variants mapped to 3D protein structure. Database (Oxford) 2012, 10.1093/database/bas1018.
-
(2012)
Database (Oxford)
-
-
Luu, T.D.1
Rusu, A.M.2
Walter, V.3
-
42
-
-
0026458378
-
Amino acid substitution matrices from protein blocks
-
Henikoff S., Henikoff J.G. Amino acid substitution matrices from protein blocks. PNAS 1992, 89:10915-10919.
-
(1992)
PNAS
, vol.89
, pp. 10915-10919
-
-
Henikoff, S.1
Henikoff, J.G.2
-
43
-
-
33748518255
-
Comparison of multiple amber force fields and development of improved protein backbone parameters
-
Hornak V., Abel R., Okur A., Strockbine B., Roitberg A., Simmerling C. Comparison of multiple amber force fields and development of improved protein backbone parameters. Proteins 2006, 65:712-725.
-
(2006)
Proteins
, vol.65
, pp. 712-725
-
-
Hornak, V.1
Abel, R.2
Okur, A.3
Strockbine, B.4
Roitberg, A.5
Simmerling, C.6
-
44
-
-
0029635997
-
Free energy of association of the K+: 18-crown-6 complex in water: a new molecular dynamics study
-
Dang L.X., Kollman P.A. Free energy of association of the K+: 18-crown-6 complex in water: a new molecular dynamics study. J Phys Chem 1995, 99:55-58.
-
(1995)
J Phys Chem
, vol.99
, pp. 55-58
-
-
Dang, L.X.1
Kollman, P.A.2
-
45
-
-
0011108916
-
Computer simulations of NaCl association in polarizable water
-
Smith D.E., Dang L.X. Computer simulations of NaCl association in polarizable water. J Chem Phys 1994, 100:3757-3766.
-
(1994)
J Chem Phys
, vol.100
, pp. 3757-3766
-
-
Smith, D.E.1
Dang, L.X.2
-
46
-
-
77955589157
-
Structural dynamics of the Box C/D RNA kink-turn and its complex with proteins: the role of the A-minor 0 interaction, long-residency water bridges, and structural ion-binding sites revealed by molecular simulations
-
Spackova N., Reblova K., Sponer J. Structural dynamics of the Box C/D RNA kink-turn and its complex with proteins: the role of the A-minor 0 interaction, long-residency water bridges, and structural ion-binding sites revealed by molecular simulations. J Phys Chem B 2010, 114:10581-10593.
-
(2010)
J Phys Chem B
, vol.114
, pp. 10581-10593
-
-
Spackova, N.1
Reblova, K.2
Sponer, J.3
-
47
-
-
0029102236
-
Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families
-
Kozak L., Kuhrova V., Blazkova M., et al. Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families. Hum Genet 1995, 96:472-476.
-
(1995)
Hum Genet
, vol.96
, pp. 472-476
-
-
Kozak, L.1
Kuhrova, V.2
Blazkova, M.3
-
48
-
-
0030727361
-
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations
-
Kozak L., Blazkova M., Kuhrova V., Pijackova A., Ruzickova S., St'astna S. Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. J Med Genet 1997, 34:893-898.
-
(1997)
J Med Genet
, vol.34
, pp. 893-898
-
-
Kozak, L.1
Blazkova, M.2
Kuhrova, V.3
Pijackova, A.4
Ruzickova, S.5
St'astna, S.6
-
49
-
-
0028178619
-
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients
-
Guldberg P., Henriksen F.F., Thony B., Blau N., Güttlet F. Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics 1994, 21:453-455.
-
(1994)
Genomics
, vol.21
, pp. 453-455
-
-
Guldberg, P.1
Henriksen, F.F.2
Thony, B.3
Blau, N.4
Güttlet, F.5
-
50
-
-
0027443015
-
Phenylketonuria mutant alleles in different populations: missense mutation in exon 7 of phenylalanine hydroxylase gene
-
Takarada Y., Kalanin J., Yamashita K., Ohtsuka N., Kagawa S., Matsuoka A. Phenylketonuria mutant alleles in different populations: missense mutation in exon 7 of phenylalanine hydroxylase gene. Clin Chem 1993, 39:2354-2355.
-
(1993)
Clin Chem
, vol.39
, pp. 2354-2355
-
-
Takarada, Y.1
Kalanin, J.2
Yamashita, K.3
Ohtsuka, N.4
Kagawa, S.5
Matsuoka, A.6
-
51
-
-
67650806457
-
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin
-
Dobrowolski S.F., Borski K., Ellingson C.C., Koch R., Levy H.L., Naylor E.W. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. J Hum Genet 2009, 54:335-339.
-
(2009)
J Hum Genet
, vol.54
, pp. 335-339
-
-
Dobrowolski, S.F.1
Borski, K.2
Ellingson, C.C.3
Koch, R.4
Levy, H.L.5
Naylor, E.W.6
-
52
-
-
84872612797
-
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients
-
Sterl E., Paul K., Paschke E., et al. Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. J Inherit Metab Dis 2013, 36:7-13.
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 7-13
-
-
Sterl, E.1
Paul, K.2
Paschke, E.3
-
53
-
-
0037389132
-
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency
-
Aulehla-Scholz C., Heilbronner H. Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. Hum Mutat 2003, 21:399-400.
-
(2003)
Hum Mutat
, vol.21
, pp. 399-400
-
-
Aulehla-Scholz, C.1
Heilbronner, H.2
-
54
-
-
62149087350
-
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
-
Daniele A., Scala I., Cardillo G., et al. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. FEBS J 2009, 276:2048-2059.
-
(2009)
FEBS J
, vol.276
, pp. 2048-2059
-
-
Daniele, A.1
Scala, I.2
Cardillo, G.3
-
55
-
-
0037242342
-
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH
-
Pey A.L., Desviat L.R., Gamez A., Ugarte M., Perez B. Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum Mutat 2003, 21:370-378.
-
(2003)
Hum Mutat
, vol.21
, pp. 370-378
-
-
Pey, A.L.1
Desviat, L.R.2
Gamez, A.3
Ugarte, M.4
Perez, B.5
-
56
-
-
25144523127
-
Loss of protein structure stability as a major causative factor in monogenic disease
-
Yue P., Li Z., Moult J. Loss of protein structure stability as a major causative factor in monogenic disease. J Mol Biol 2005, 353:459-473.
-
(2005)
J Mol Biol
, vol.353
, pp. 459-473
-
-
Yue, P.1
Li, Z.2
Moult, J.3
-
57
-
-
2942547665
-
Simulation and modeling of nucleic acid structure, dynamics and interactions
-
Cheatham T.E. Simulation and modeling of nucleic acid structure, dynamics and interactions. Curr Opin Struct Biol 2004, 14:360-367.
-
(2004)
Curr Opin Struct Biol
, vol.14
, pp. 360-367
-
-
Cheatham, T.E.1
-
58
-
-
75449112058
-
Molecular dynamics and quantum mechanics of RNA: conformational and chemical change we can believe in
-
Ditzler M.A., Otyepka M., Sponer J., Walter N.G. Molecular dynamics and quantum mechanics of RNA: conformational and chemical change we can believe in. Acc Chem Res 2010, 43:40-47.
-
(2010)
Acc Chem Res
, vol.43
, pp. 40-47
-
-
Ditzler, M.A.1
Otyepka, M.2
Sponer, J.3
Walter, N.G.4
-
59
-
-
64649101249
-
Long-timescale molecular dynamics simulations of protein structure and function
-
Klepeis J.L., Lindorff-Larsen K., Dror R.O., Shaw D.E. Long-timescale molecular dynamics simulations of protein structure and function. Curr Opin Struct Biol 2009, 19:120-127.
-
(2009)
Curr Opin Struct Biol
, vol.19
, pp. 120-127
-
-
Klepeis, J.L.1
Lindorff-Larsen, K.2
Dror, R.O.3
Shaw, D.E.4
-
60
-
-
77957937199
-
Atomic-level characterization of the structural dynamics of proteins
-
Shaw D.E., Maragakis P., Lindorff-Larsen K., et al. Atomic-level characterization of the structural dynamics of proteins. Science 2010, 330:341-346.
-
(2010)
Science
, vol.330
, pp. 341-346
-
-
Shaw, D.E.1
Maragakis, P.2
Lindorff-Larsen, K.3
-
61
-
-
84860894253
-
New insights into the role of the glutamic acid of the E-box motif in group B Streptococcus pilus 2a assembly
-
Cozzi R., Nuccitelli A., D'Onofrio M., et al. New insights into the role of the glutamic acid of the E-box motif in group B Streptococcus pilus 2a assembly. FASEB J 2012, 26:2008-2018.
-
(2012)
FASEB J
, vol.26
, pp. 2008-2018
-
-
Cozzi, R.1
Nuccitelli, A.2
D'Onofrio, M.3
-
62
-
-
83655169803
-
Influence of the pathogenic mutations T188K/R/A on the structural stability and misfolding of human prion protein: insight from molecular dynamics simulations
-
Guo J., Ning L., Ren H., Liu H., Yao X. Influence of the pathogenic mutations T188K/R/A on the structural stability and misfolding of human prion protein: insight from molecular dynamics simulations. Biochim Biophys Acta 2012, 1820:116-123.
-
(2012)
Biochim Biophys Acta
, vol.1820
, pp. 116-123
-
-
Guo, J.1
Ning, L.2
Ren, H.3
Liu, H.4
Yao, X.5
-
63
-
-
0031081364
-
Characterization of mutations at the mouse phenylalanine hydroxylase locus
-
McDonald J.D., Charlton C.K. Characterization of mutations at the mouse phenylalanine hydroxylase locus. Genomics 1997, 39:402-405.
-
(1997)
Genomics
, vol.39
, pp. 402-405
-
-
McDonald, J.D.1
Charlton, C.K.2
-
64
-
-
0034012174
-
A heteroallelic mutant mouse model: a new orthologue for human hyperphenylalaninemia
-
Sarkissian C.N., Boulais D.M., McDonald J.D., Scriver C.R. A heteroallelic mutant mouse model: a new orthologue for human hyperphenylalaninemia. Mol Genet Metab 2000, 69:188-194.
-
(2000)
Mol Genet Metab
, vol.69
, pp. 188-194
-
-
Sarkissian, C.N.1
Boulais, D.M.2
McDonald, J.D.3
Scriver, C.R.4
-
65
-
-
0027295348
-
Mouse models of human phenylketonuria
-
Shedlovsky A., McDonald J.D., Symula D., Dove W.F. Mouse models of human phenylketonuria. Genetics 1993, 134:1205-1210.
-
(1993)
Genetics
, vol.134
, pp. 1205-1210
-
-
Shedlovsky, A.1
McDonald, J.D.2
Symula, D.3
Dove, W.F.4
-
66
-
-
77952483396
-
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo
-
Gersting S.W., Lagler F.B., Eichinger A., et al. Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo. Hum Mol Genet 2010, 19:2039-2049.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2039-2049
-
-
Gersting, S.W.1
Lagler, F.B.2
Eichinger, A.3
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